Product Details

SNP ID

rs150503333

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47438785 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCTGCAGCCGGCTGTTCTTCTC[A/G]CCTATGGACTCGCCGCACAGGCCGC

Phenotype

MIM: 601592

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RAPSN PubMed Links

Gene Details

Gene

RAPSN

Gene Name

receptor associated protein of the synapse

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005055.4	1327	Silent Mutation	GGC,GGT	G371G	NP_005046.2
NM_032645.4	1327	Silent Mutation	GGC,GGT	G312G	NP_116034.2
XM_005253042.3	1327	Silent Mutation	GGC,GGT	G353G	XP_005253099.1
XM_005253043.3	1327	Silent Mutation	GGC,GGT	G330G	XP_005253100.1
XM_011520252.1	1327	Nonsense Mutation	CGA,TGA	R400*	XP_011518554.1

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